MCID: PHC018
MIFTS: 37

Phace Association

Categories: Cardiovascular diseases, Eye diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Phace Association

MalaCards integrated aliases for Phace Association:

Name: Phace Association 57 74 20 71
Phace Syndrome 20 58 6
Pascual-Castroviejo Syndrome Type 2 20 58
Phaces Association 57 20
Posterior Fossa Brain Malformations, Hemangiomas of the Face, Arterial Anomalies, Cardiac Anomalies, and Eye Abnormalities 20
Pascual-Castroviejo Type Ii Syndrome 20
Aortic Aneurysm, Giant Congenital 57
Phaces Syndrome 58
P-Ciis 20

Characteristics:

Orphanet epidemiological data:

58
phace syndrome
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Infancy,Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
isolated cases

Miscellaneous:
phace is an acronym for posterior fossa brain malformation, large facial hemangiomas, arterial anomalies, cardiac anomalies and aortic coarctation, and eye abnormalities
87% patients are female


HPO:

31
phace association:
Inheritance sporadic x-linked dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare circulatory system diseases
Rare cardiac malformations
Developmental anomalies during embryogenesis


Summaries for Phace Association

GARD : 20 PHACE syndrome is the association of a large hemangioma, usually on the face or neck, in combination with one or more other birth defects. People with PHACE syndrome may have Posterior fossa brain malformations, Hemangioma, Arterial lesions (blood vessel abnormalities in the head or neck), Cardiac (heart) abnormalities/aortic coarctation, and Eye abnormalities. Symptoms and symptom severity may vary from person to person. The cause of the condition is currently unknown. It affects girls much more often than boys. Treatment is based on the signs and symptoms present in the person.

MalaCards based summary : Phace Association, also known as phace syndrome, is related to cerebral cortical dysplasia and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, and has symptoms including seizures An important gene associated with Phace Association is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase). Affiliated tissues include eye, brain and thyroid, and related phenotypes are abnormal cerebral artery morphology and glaucoma

OMIM® : 57 PHACE is an acronym for a neurocutaneous syndrome encompassing the following features: posterior fossa brain malformations, hemangiomas of the face (large or complex), arterial anomalies, cardiac anomalies, and eye abnormalities. The association is referred to as PHACES when ventral developmental defects, such as sternal clefting or supraumbilical raphe, are present (summary by Bracken et al., 2011). (606519) (Updated 05-Mar-2021)

Wikipedia : 74 PHACE syndrome is a cutaneous condition characterized by multiple congenital abnormalities. The mnemonic... more...

Related Diseases for Phace Association

Diseases related to Phace Association via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 114)
# Related Disease Score Top Affiliating Genes
1 cerebral cortical dysplasia 10.3
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
3 microphthalmia 10.2
4 posterior fossa malformation 10.2
5 hemangioma 10.2
6 hypothyroidism 10.2
7 transient cerebral ischemia 10.2
8 ptosis 10.1
9 heart septal defect 10.1
10 subglottic angioma 10.1
11 pituitary gland disease 10.1
12 gastroenteritis 10.1
13 ectopia cordis 10.0
14 cerebral cavernous malformations 10.0
15 retinoblastoma 10.0
16 strabismus 10.0
17 persistent hyperplastic primary vitreous, autosomal recessive 10.0
18 moyamoya disease 1 10.0
19 congenital hypothyroidism 10.0
20 hypogonadotropic hypogonadism 10.0
21 sensorineural hearing loss 10.0
22 pre-eclampsia 10.0
23 hydrocephalus 10.0
24 placenta praevia 10.0
25 horner's syndrome 10.0
26 eclampsia 10.0
27 ventricular septal defect 10.0
28 hypogonadism 10.0
29 capillary hemangioma 10.0
30 cataract 10.0
31 mechanical strabismus 10.0
32 aortic arch interruption 10.0
33 internal carotid agenesis 10.0
34 sternal cleft 10.0
35 congenital oculomotor nerve palsy 10.0
36 coarctation of aorta 9.9
37 cerebellar hypoplasia 9.9
38 empty sella syndrome 9.9
39 growth hormone deficiency 9.9
40 glioma susceptibility 1 9.9
41 intussusception 9.9
42 arachnoid cysts, intracranial 9.9
43 hemihyperplasia, isolated 9.9
44 sclerocornea 9.9
45 suppression amblyopia 9.9
46 amblyopia 9.9
47 basilar artery occlusion 9.9
48 vascular disease 9.9
49 constipation 9.9
50 angiodysplasia 9.9

Graphical network of the top 20 diseases related to Phace Association:



Diseases related to Phace Association

Symptoms & Phenotypes for Phace Association

Human phenotypes related to Phace Association:

58 31 (show top 50) (show all 54)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal cerebral artery morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0009145
2 glaucoma 58 31 frequent (33%) Frequent (79-30%) HP:0000501
3 microphthalmia 58 31 frequent (33%) Frequent (79-30%) HP:0000568
4 abnormal cardiac septum morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001671
5 dandy-walker malformation 58 31 frequent (33%) Frequent (79-30%) HP:0001305
6 optic nerve hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000609
7 cerebral arteriovenous malformation 58 31 frequent (33%) Frequent (79-30%) HP:0002408
8 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
9 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
10 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
11 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
12 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
13 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
14 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
15 coarctation of aorta 58 31 occasional (7.5%) Occasional (29-5%) HP:0001680
16 hemiplegia/hemiparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004374
17 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612
18 tetralogy of fallot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001636
19 amblyopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000646
20 heterochromia iridis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001100
21 sclerocornea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000647
22 capillary hemangioma 58 31 occasional (7.5%) Occasional (29-5%) HP:0005306
23 visceral angiomatosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100761
24 cerebellar hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001321
25 aortic root aneurysm 58 31 occasional (7.5%) Occasional (29-5%) HP:0002616
26 ectopic thyroid 58 31 occasional (7.5%) Occasional (29-5%) HP:0100028
27 retinal vascular malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007797
28 lens coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0100719
29 abnormality of the orbital region 31 occasional (7.5%) HP:0000315
30 seizure 31 occasional (7.5%) HP:0001250
31 hypotonia 31 occasional (7.5%) HP:0001252
32 abnormal sternum morphology 31 occasional (7.5%) HP:0000766
33 abnormal carotid artery morphology 31 occasional (7.5%) HP:0005344
34 seizures 58 Occasional (29-5%)
35 muscular hypotonia 58 Occasional (29-5%)
36 optic atrophy 31 HP:0000648
37 patent ductus arteriosus 31 HP:0001643
38 ventricular septal defect 31 HP:0001629
39 abnormality of the carotid arteries 58 Occasional (29-5%)
40 arterial stenosis 31 HP:0100545
41 migraine 31 HP:0002076
42 abnormality of the sternum 58 Occasional (29-5%)
43 abnormal heart morphology 58 Frequent (79-30%)
44 aortic aneurysm 31 HP:0004942
45 congenital hypothyroidism 31 HP:0000851
46 horner syndrome 31 HP:0002277
47 developmental cataract 31 HP:0000519
48 abnormality of the ocular region 58 Occasional (29-5%)
49 cavernous hemangioma of the face 31 HP:0007486
50 anomalous branches of internal carotid artery 31 HP:0005314

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
dandy-walker malformation
cerebellar hypoplasia
developmental delay
cerebral infarction
more
Cardiovascular Vascular:
patent ductus arteriosus
arterial stenosis
anomalous branches of internal carotid artery
coarctation of the aorta
steal syndrome
more
Head And Neck Face:
facial hemangioma

Respiratory Larynx:
subglottic hemangioma

Abdomen External Features:
supraumbilical abdominal raphe

Head And Neck Eyes:
optic atrophy
optic nerve hypoplasia
increased retinal vascularity
congenital cataract
horner's syndrome
more
Cardiovascular Heart:
ventricular septal defect

Endocrine Features:
congenital hypothyroidism
lingual thyroid

Chest Ribs Sternum Clavicles And Scapulae:
sternal clefting
sternal pits

Skin Nails Hair Skin:
hemangioma, facial, plaque-like

Clinical features from OMIM®:

606519 (Updated 05-Mar-2021)

UMLS symptoms related to Phace Association:


seizures

Drugs & Therapeutics for Phace Association

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Longitudinal Study of Neurologic, Cognitive, and Radiologic Outcomes in PHACE Syndrome Completed NCT01018082
2 Genetic Analysis of PHACE Syndrome.(PHACE Syndrome is Defined as a Hemangioma Plus One or More of the Following: Brain, Heart, Eye, Sternal or Cerebral Artery Anomalies). Recruiting NCT01016756

Search NIH Clinical Center for Phace Association

Genetic Tests for Phace Association

Anatomical Context for Phace Association

MalaCards organs/tissues related to Phace Association:

40
Eye, Brain, Thyroid, Heart, Skin, Pituitary

Publications for Phace Association

Articles related to Phace Association:

(show top 50) (show all 219)
# Title Authors PMID Year
1
PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients. 57 61
21674285 2011
2
Cervical and intracranial arterial anomalies in 70 patients with PHACE syndrome. 61 57
20705698 2010
3
Consensus Statement on Diagnostic Criteria for PHACE Syndrome. 57 61
19858157 2009
4
A prospective study of PHACE syndrome in infantile hemangiomas: demographic features, clinical findings, and complications. 57 61
16575892 2006
5
Infantile orofacial hemangioma with ipsilateral peripapillary excavation in girls: a variant of the PHACE syndrome. 61 57
15006868 2004
6
Report of a child with aortic aneurysm, orofacial clefting, hemangioma, upper sternal defect, and marfanoid features: possible PHACE syndrome. 57 61
12116239 2002
7
The many faces of PHACE syndrome. 61 57
11445804 2001
8
PHACE: a neurocutaneous syndrome with important ophthalmologic implications: case report and literature review. 61 57
10485544 1999
9
PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. 57 61
8607636 1996
10
Giant congenital aortic aneurysm with cleft sternum, supraumbilical raphé, and hemangiomatosis: report and review. 57
10678663 2000
11
Sternal cleft associated with vascular anomalies and micrognathia. 57
8328853 1993
12
Aneurysm of the ascending aorta associated with sternal cleft, cutaneous hemangioma, and occlusion of the right innominate artery in a neonate. 57
3541557 1987
13
Vascular and nonvascular intracranial malformation associated with external capillary hemangiomas. 57
740218 1978
14
Persistent second cervical intersegmental artery in a case of possible PHACE syndrome. 61
32726171 2021
15
Are pediatric patients with PHACE association at high risk for anesthetic complications? 61
33078456 2021
16
Arterial Spin-Labeling Perfusion for PHACE Syndrome. 61
33214180 2021
17
PHACE syndrome: importance of distinguishing infantile haemangioma from capillary malformation. 61
32522758 2020
18
PHACES Syndrome with Intestinal Hemangioma Causing Recurrent Intussusceptions: A Case Report and Literature Review of Associated Intestinal Hemangioma. 61
33403127 2020
19
Airway Hemangiomas in PHACE Syndrome: A Multicenter Experience. 61
33076780 2020
20
PHACE syndrome in a preterm infant. 61
32913025 2020
21
Unrelenting facial segmental hemangiomas: A case series of late growth and recurrent ulcerations. 61
32639025 2020
22
Utilisation of advanced MRI techniques to understand neurovascular complications of PHACE syndrome: a case of arterial stenosis and dissection. 61
32928832 2020
23
Morning glory disc anomaly associated with large facial infantile hemangioma as the presenting signs of PHACE syndrome. 61
32756785 2020
24
Hemangioma-related syndromes. 61
32692048 2020
25
Fetal neuroimaging findings in PHACE syndrome: case report and review of the literature. 61
32723018 2020
26
Frey syndrome-like developmental dysautonomia in a child with PHACE syndrome. 61
32101632 2020
27
PHACE Syndrome: A Rare Case. 61
31976140 2020
28
Evaluating the Safety of Oral Propranolol Therapy in Patients With PHACE Syndrome. 61
31825455 2020
29
Hamartomas and midline anomalies in association with infantile hemangiomas, PHACE, and LUMBAR syndromes. 61
31631401 2020
30
Sternal cleft and segmental facial hemangiomas in children with phaces syndrome: effectiveness and safety of conservative management and surgical correction. 61
32723967 2020
31
Epidemiology, Clinical Features, and Use of Early Supportive Measures in PHACE Syndrome: A European Multinational Observational Study. 61
32610335 2020
32
Dieulafoy lesions and PHACE syndrome. 61
31359449 2019
33
A case of PHACE syndrome with growth hormone deficiency and abnormal thyroid functions. 61
31473685 2019
34
Intrathoracic hybrid lesion: an incidental finding in a patient with PHACE syndrome. 61
31780601 2019
35
Infantile hemangioma of the upper lip and enamel hypoplasia: Two case reports. 61
31468572 2019
36
Facial segmental haemangioma with PHACE Syndrome successfully treated with oral propranolol. 61
31649228 2019
37
Natural history of PHACE syndrome: A survey of adults with PHACE. 61
31222913 2019
38
Endocrine manifestations of PHACE syndrome. 61
31323007 2019
39
PHACE syndrome and hearing loss. 61
33272523 2019
40
Dental root abnormalities in four children with PHACE syndrome. 61
30933385 2019
41
Moyamoya angiopathy in PHACE syndrome not associated with RNF213 variants. 61
31037424 2019
42
Persistent stapedial artery in PHACE syndrome. 61
30876851 2019
43
PHACE syndrome with unnoticeable skin lesion and rare anomaly of coronary artery. 61
31090165 2019
44
Surgery on a dilated aorta associated with a connective tissue disease or inflammatory vasculitis in children and adolescents. 61
31111802 2019
45
Moyamoya syndrome and PHACE syndrome: clinical and radiographic characterization of the intracranial arteriopathy and response to surgical revascularization. 61
30717056 2019
46
Late growth of infantile hemangiomas in children >3 years of age: A retrospective study. 61
30293898 2019
47
Transient ischemic attack in elderly patient with PHACE syndrome. 61
31637089 2019
48
Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome. 61
31956451 2019
49
PHACE syndrome and hearing loss. 61
31644633 2019
50
Ocular Complications in PHACE Syndrome: A True Association or a Coincidence? 61
30270159 2019

Variations for Phace Association

ClinVar genetic disease variations for Phace Association:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BRAF NM_001374258.1(BRAF):c.1720G>C (p.Gly574Arg) SNV Pathogenic 13980 rs180177041 7:140476806-140476806 7:140777006-140777006

Copy number variations for Phace Association from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 220052 7 133600015 133700204 Deletion SLC35B4 PHACE syndrome

Expression for Phace Association

Search GEO for disease gene expression data for Phace Association.

Pathways for Phace Association

GO Terms for Phace Association

Sources for Phace Association

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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